Pub. Date : 2021
PMID : 33599438
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Genetic analysis demonstrated that the patient had a SLC26A3 c.269_270dupAA homozygous mutation in exon 3, leading to a frameshift from 91st amino acid Gly and alteration of the SLC26A3 transmembrane protein sequence, thus resulting in a Cl-/HCO3- exchange barrier. | Glycine | solute carrier family 26 member 3 | Homo sapiens |